muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
diseaseOn this page
Also known as LGMD-POMGNT2 related myopathyMDDGC8
Summary
muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 (MONDO:0029135) is a disease with 1 cohort gene.
At a glance
- Cohort genes: 1
- ClinVar variants: 14
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8 |
| Mondo ID | MONDO:0029135 |
| OMIM | 618135 |
| DOID | DOID:0112382 |
| UMLS | C4748320 |
| MedGen | 1648468 |
| GARD | 0016294 |
| Is cancer (heuristic) | no |
Also known as: LGMD-POMGNT2 related myopathy · MDDGC8
Data availability: 14 ClinVar variants.
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › congenital muscular dystrophy › muscular dystrophy-dystroglycanopathy › muscular dystrophy-dystroglycanopathy, type C › muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 8
Related subtypes (8): autosomal recessive limb-girdle muscular dystrophy type 2K, autosomal recessive limb-girdle muscular dystrophy type 2M, autosomal recessive limb-girdle muscular dystrophy type 2O, autosomal recessive limb-girdle muscular dystrophy type 2N, autosomal recessive limb-girdle muscular dystrophy type 2P, autosomal recessive limb-girdle muscular dystrophy type 2T, autosomal recessive limb-girdle muscular dystrophy type 2U, limb-girdle muscular dystrophy due to POMK deficiency
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
ClinVar germline variants
14 retrieved; paginated sample, class counts are floors:
5 uncertain significance, 2 benign, 2 benign/likely benign, 2 conflicting classifications of pathogenicity, 2 pathogenic, 1 likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 545449 | NM_032806.6(POMGNT2):c.758C>T (p.Pro253Leu) | POMGNT2 | Pathogenic | criteria provided, multiple submitters, no conflicts |
| 565308 | NM_032806.6(POMGNT2):c.494T>C (p.Met165Thr) | POMGNT2 | Pathogenic | no assertion criteria provided |
| 3780481 | NM_032806.6(POMGNT2):c.1264C>T (p.Gln422Ter) | POMGNT2 | Likely pathogenic | criteria provided, single submitter |
| 37208 | NM_032806.6(POMGNT2):c.473G>A (p.Arg158His) | POMGNT2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 627559 | NM_032806.6(POMGNT2):c.511G>A (p.Asp171Asn) | POMGNT2 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 1010449 | NM_032806.6(POMGNT2):c.1681C>T (p.Arg561Cys) | POMGNT2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 1450409 | NM_032806.6(POMGNT2):c.1385G>A (p.Arg462Gln) | POMGNT2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2161912 | NM_032806.6(POMGNT2):c.1682G>A (p.Arg561His) | POMGNT2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 2444502 | NM_032806.6(POMGNT2):c.255C>G (p.Cys85Trp) | POMGNT2 | Uncertain significance | criteria provided, single submitter |
| 540489 | NM_032806.6(POMGNT2):c.377A>G (p.Asn126Ser) | POMGNT2 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
| 262102 | NM_032806.6(POMGNT2):c.-43C>T | POMGNT2 | Benign | criteria provided, multiple submitters, no conflicts |
| 262104 | NM_032806.6(POMGNT2):c.1365G>A (p.Pro455=) | POMGNT2 | Benign | criteria provided, multiple submitters, no conflicts |
| 262105 | NM_032806.6(POMGNT2):c.1488C>T (p.Gly496=) | POMGNT2 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
| 377356 | NM_032806.6(POMGNT2):c.1385G>T (p.Arg462Leu) | POMGNT2 | Benign/Likely benign | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| POMGNT2 | Orphanet:899 | Walker-Warburg syndrome |
Cohort genes → proteins
1 cohort genes, 1 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 1 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| POMGNT2 | HGNC:25902 | ENSG00000144647 | Q8NAT1 | Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| POMGNT2 | Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2 | O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. |
Protein-family classification
Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0
Family distribution
Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.
| Family | Genes | Fold | FDR |
|---|---|---|---|
| Antibody/Immunoglobulin | 1 | 29.2× | 0.034 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| POMGNT2 | Antibody/Immunoglobulin | yes | 2.4.1.312 | FN3_dom, Glycosyltransferase_61, Ig-like_fold |
Expression context
Cohort genes with no expression data: 0.
1 cohort gene are a single-cell marker in ≥1 SCXA experiment.
Breadth distribution (Bgee present_calls)
| Bucket | Genes |
|---|---|
| narrow (1-5 tissues) | 0 |
| moderate (6-20) | 0 |
| broad (>20) | 1 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| cardiac muscle of right atrium | 1 |
| lateral nuclear group of thalamus | 1 |
| right hemisphere of cerebellum | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| POMGNT2 | 245 | ubiquitous | marker | lateral nuclear group of thalamus, right hemisphere of cerebellum, cardiac muscle of right atrium |
Protein interactions among cohort
Intra-cohort edges: 0.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| POMGNT2 | 968 |
Structural data
PDB: 1 · AlphaFold-only: 0 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| POMGNT2 | Q8NAT1 | 3 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 1. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).
Pathways by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| DAG1 core M3 glycosylations | 1 | 1903.3× | 5e-04 | POMGNT2 |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| protein O-linked glycosylation via mannose | 1 | 936.2× | 0.003 | POMGNT2 |
| protein O-linked glycosylation | 1 | 224.7× | 0.007 | POMGNT2 |
| neuron migration | 1 | 133.8× | 0.007 | POMGNT2 |
Therapeutics
Drug target analysis
Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1
Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| POMGNT2 | 0 | 0 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 1.
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| POMGNT2 | 2.4.1.312 | protein O-mannose beta-1,4-N-acetylglucosaminyltransferase |
Pharmacogenomics
Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 0 | |
| B | Phased (≥1) drug, not yet approved | 0 | |
| C | Druggable family + PDB, no drug | 1 | POMGNT2 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 0 |
Undrugged target profiles
1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| POMGNT2 | 0 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 0.
Related Atlas pages
- Cohort genes: POMGNT2